Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China.

Abstract

Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of hearing loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNA(Ser(UCN)) by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2, 3.70% in GJB6, 15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA, respectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic hearing loss.

• Authors: Yajie Lu, Dachun Dai, Zhibin Chen, Xin Cao, Xingkuan Bu, Qinjun Wei, Guangqian Xing
• Journal: Journal of biomedical research (J Biomed Res) Vol. 25 Issue 5 Pg. 309-18 (Sep 2011) ISSN: 1674-8301 [Print] China
• PMID: 23554706 (Publication Type: Journal Article)